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Phenotypes Associated with This Genotype
Genotype
MGI:5925277
Allelic
Composition
Clcn2nmf289/Clcn2nmf289
Genetic
Background
CByJ.Cg-Clcn2nmf289/Pjn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clcn2nmf289 mutation (1 available); any Clcn2 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• retinal pigment epithelial cells have elongated apical microvilli by 14 days of age

cellular
• homozygotes lack spermatocytes, spermatids, and mature spermatozoa and are sterile

reproductive system
• homozygotes lack spermatocytes, spermatids, and mature spermatozoa and are sterile

vision/eye
• vascular thinning and clearer definition of choroidal vessels
• mild, slow progressing with 4 to 5 photoreceptor layers still present at 1 month of age
• retinal pigment epithelial cells have elongated apical microvilli by 14 days of age
• dark-adapted ERG responses are substantially reduced by 1 month of age

nervous system
• homozygotes assesssed between 3 and 6 months of age have prominant vacuolization in the white matter of the corpus callosum, brain stem, and cerebellum, consistent with human subclinical leukodystrophy
• mild, slow progressing with 4 to 5 photoreceptor layers still present at 1 month of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
leukodystrophy DOID:10579 J:243745


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/05/2019
MGI 6.14
The Jackson Laboratory